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Novel COL4A3 synonymous mutation causes Alport syndrome coexistent with immunoglobulin A nephropathy in a woman:A case report
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作者 Yu-Ting Chen Wen-Ze Jiang Ke-Da Lu 《World Journal of Clinical Cases》 SCIE 2023年第25期5947-5953,共7页
BACKGROUND Alport syndrome(AS)is an inherited disease of the glomerular basement membrane caused by mutations in genes encodingα3,α4,orα5 chains of type IV collagen.It manifests with hematuria or proteinuria,which ... BACKGROUND Alport syndrome(AS)is an inherited disease of the glomerular basement membrane caused by mutations in genes encodingα3,α4,orα5 chains of type IV collagen.It manifests with hematuria or proteinuria,which is often accompanied by hearing impairments and ocular abnormalities.Histopathologically,AS shows mesangial proliferation and sometimes incidental immunoglobulin A(IgA)deposition.Hematuria or proteinuria is also a common presentation in patients with IgA nephropathy that makes it difficult to differentially diagnose AS and IgA nephropathy solely based on these clinical and pathological features.CASE SUMMARY Herein,we present the case of a 59-year-old female patient who was admitted to our hospital with persistent microscopic hematuria and occasional proteinuria that had lasted for>2 years.This patient had a familial history of renal disease and was diagnosed with autosomal dominant AS(ADAS)and IgA nephropathy based on the findings of renal biopsy as well as genetic testing performed using whole-exome sequencing,which suggested that the patient carried a novel heterozygous variation(c.888G>A:p.Gln296Gln)in the COL4A3 gene that enriches the mutation spectrum of ADAS.The proband received an angiotensin receptor blocker therapy after a definitive diagnosis was established.After one year of therapy,a significant reduction in proteinuria was observed.The number of microscopic red blood cells per high-power field decreased to one-quarter of the baseline levels.Renal function also maintained well during the follow-up.CONCLUSION Our case highlights the significance of performing kidney biopsy and genetic testing in the diagnosis of AS and familial IgA nephropathy. 展开更多
关键词 alport syndrome immunoglobulin a nephropathy COL4a3 gene Whole-exome sequencing Renal biopsy Case report
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Autoimmune hepatitis in a patient with immunoglobulin A nephropathy:A case report
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作者 You Hyun Jeon Da Woon Kim +8 位作者 So Jeong Lee Young Joo Park Hyo Jin Kim Miyeun Han Il Young Kim Dong Won Lee Sang Heon Song Soo Bong Lee Eun Young Seong 《World Journal of Clinical Cases》 SCIE 2020年第17期3828-3834,共7页
BACKGROUND Immunoglobulin A nephropathy(IgAN)is the most commonly encountered glomerular disease in Asian countries.It has a broad clinical presentation,and it is frequently associated with other conditions.Chronic li... BACKGROUND Immunoglobulin A nephropathy(IgAN)is the most commonly encountered glomerular disease in Asian countries.It has a broad clinical presentation,and it is frequently associated with other conditions.Chronic liver disease is well recognized as the leading cause of secondary IgAN.However,cases of IgAN associated with autoimmune hepatitis(AIH)have seldom been reported.CASE SUMMARY A 63-year-old Korean woman was admitted to Pusan National University Hospital for an evaluation of abdominal pain and elevated liver enzymes.Two weeks prior,she had presented to our hospital with proteinuria of approximately 1350 mg/d and hematuria and was diagnosed with IgAN.Autoimmune profiles were highly positive for antinuclear antibodies,and symptoms related to portal hypertension including ascites and peripheral edema were present.A diagnosis of AIH was made according to the simplified scoring system of the International Autoimmune Hepatitis Group.Despite immunosuppression with prednisolone and azathioprine,rapid deterioration of liver function led to end-stage liver disease.After a living-donor liver transplantation,liver function gradually improved,and she had maintained stable liver and kidney function at the six months follow-up.CONCLUSION Cases of secondary IgAN with chronic liver disease have been frequently reported in the literature but are rarely associated with AIH.We encountered an IgAN patient with concurrent progressive liver failure due to AIH. 展开更多
关键词 immunoglobulin a nephropathy Secondary immunoglobulin a nephropathy autoimmune hepatitis Liver transplantation Case report
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Delayed diffuse lamellar keratitis after small-incision lenticule extraction related to immunoglobulin A nephropathy:A case report
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作者 Ting-Ting Dan Tai-Xiang Liu +1 位作者 Yi-Lu Liao Zong-Ze Li 《World Journal of Clinical Cases》 SCIE 2022年第13期4131-4136,共6页
BACKGROUND Diffuse lamellar keratitis(DLK)is a complication of laser-assisted in situ keratomileusis(LASIK).This condition can also develop after small-incision lenticule extraction(SMILE)with a distinctive appearance... BACKGROUND Diffuse lamellar keratitis(DLK)is a complication of laser-assisted in situ keratomileusis(LASIK).This condition can also develop after small-incision lenticule extraction(SMILE)with a distinctive appearance.We report the case involving a female patient with delayed onset DLK accompanied by immunoglobulin A(IgA)nephropathy.CASE SUMMARY A 22-year-old woman was referred to our department for DLK and a decline in vision 1 mo after undergoing SMILE.The initial examination showed grade 2 DLK in the flap involving the central visual axis of the right eye.She was immediately administered with a large dose of a topical steroid for 30 d.However,the treatment was ineffective.Her vision deteriorated from 10/20 to 6/20,and DLK gradually worsened from grade 2 to 4.Eventually,interface washout was performed,after which her vision improved.DLK completely disappeared 2 mo after washout.Six months after SMILE,the patient was diagnosed with IgA nephropathy due to a 4-year history of interstitial hematuria.CONCLUSION DLK is a typical complication of LASIK but can also develop after SMILE.Topical steroid therapy was ineffective in our patient,and interface washout was required.IgA nephropathy could be one of the factors contributing to the development of delayed DLK after SMILE. 展开更多
关键词 Diffuse lamellar keratitis Small-incision lenticule extraction immunoglobulin a nephropathy Laser-assisted in situ keratomileusis Case report
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Immunoglobulin A glomerulonephropathy:A review
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作者 Mohamad El Labban Salim Surani 《World Journal of Clinical Cases》 SCIE 2024年第8期1388-1394,共7页
In this editorial,we comment on the article by Meng et al published in the World Journal of Clinical Cases.We comprehensively review immunoglobulin A nephro-pathy(IgAN),including epidemiology,clinical presentation,dia... In this editorial,we comment on the article by Meng et al published in the World Journal of Clinical Cases.We comprehensively review immunoglobulin A nephro-pathy(IgAN),including epidemiology,clinical presentation,diagnosis,and management.IgAN,also known as Berger's disease,is the most frequent type of primary glomerulonephritis(GN)globally.It is mostly found among the Asian population.The presentation can be variable,from microscopic hematuria to a rapidly progressive GN.Around 50%of patients present with single or recurring episodes of gross hematuria.An upper respiratory infection and tonsillitis often precede these episodes.Around 30%of patients present microscopic hematuria with or without proteinuria,usually detected on routine examination.The diagnosis relies on having a renal biopsy for pathology and immunofluorescence microscopy.We focus on risk stratification and management of IgAN.We provide a review of all the landmark studies to date.According to the 2021 KDIGO(kidney disease:Improving Global Outcomes)guidelines,patients with non-variant form IgAN are first treated conservatively for three to six months.This approach consists of adequate blood pressure control,reduction of proteinuria with renin-angiotensin system blockade,treatment of dyslipidemia,and lifestyle modifications(weight loss,exercise,smoking cessation,and dietary sodium restrictions).Following three to six months of conservative therapy,patients are further classified as high or low risk for disease progression.High-risk patients have proteinuria≥1 g/d or<1 g/d with significant microscopic hematuria and active inflammation on kidney biopsy.Some experts consider proteinuria≥2 g/d to be very high risk.Patients with high and very high-risk profiles are treated with immunosuppressive therapy.A proteinuria level of<1 g/d and stable/im-proved renal function indicates a good treatment response for patients on immu-nosuppressive therapy. 展开更多
关键词 immunoglobulin a nephropathy GLOMERULONEPHRITIS Nephritic syndrome angiotensin-converting enzyme inhibitor angiotensin receptor blocker Systemic steroids Mycophenolate mofetil
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Immunoglobulin A vasculitis nephritis:Current understanding of pathogenesis and treatment
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作者 Michela Amatruda Nicolina Stefania Carucci +1 位作者 Roberto Chimenz Giovanni Conti 《World Journal of Nephrology》 2023年第4期82-92,共11页
The clinical spectrum of immunoglobulin A vasculitis nephritis(IgAVN)ranges from the relatively common transitory microscopic hematuria and/or low-grade proteinuria to nephritic or nephrotic syndrome,rapidly progressi... The clinical spectrum of immunoglobulin A vasculitis nephritis(IgAVN)ranges from the relatively common transitory microscopic hematuria and/or low-grade proteinuria to nephritic or nephrotic syndrome,rapidly progressive glomerulonephritis,or even renal failure.Clinical and experimental studies have shown a multifactor pathogenesis:Infection triggers,impaired glycosylation of IgA1,complement activation,Toll-like-receptor activation and B cell proliferation.This knowledge can identify IgAVN patients at a greater risk for adverse outcome and increase the evidence for treatment recommendations. 展开更多
关键词 immunoglobulin a vasculitis nephritis immunoglobulin a vasculitis Henoch-Schoenlein purpura immunoglobulin a nephropathy Vasculitis glomerulonephritis
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IgA Nephropathy: Are We Doing Enough?
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作者 Jose Lucas Daza Yaroslad de la Cruz +4 位作者 Luis Puello Gerardo Gutierrez Alexander Ariza Antonio Vasquez Orlando Ariza 《Open Journal of Nephrology》 2023年第2期116-125,共10页
Immunoglobulin A nephropathy (IgAN) was first identified and described as a disease by Berger and Hinglais in 1968. It is the most common primary glomerulopathy worldwide [1], most prevalent in East Asians and Caucasi... Immunoglobulin A nephropathy (IgAN) was first identified and described as a disease by Berger and Hinglais in 1968. It is the most common primary glomerulopathy worldwide [1], most prevalent in East Asians and Caucasians and rare in black individuals. There are four key elements that contribute to IgAN, which determine the severity, course, and prognosis of the disease: circulating IgA immunocomplexes that favor mesangial deposition, the efficiency of the reticuloendothelial system, mesangial cell affinity and reaction to mesangial accumulation of poorly glycosylated IgA1, and the renal tendency to glomerulosclerosis and interstitial fibrosis. Clinical manifestations among patients with IgAN include hematuria, approximately 40% to 50% of cases present with one or more episodes of hematuria, usually preceded by upper respiratory tract infections. Between 30% and 40% present with hematuria and non-nephrotic range proteinuria that may be associated with arterial hypertension and impaired renal function. The TESTING study reveal a significant decrease in outcomes such as the risk of a 40% decrease in glomerular filtration rate or the need for renal replacement therapy in the group treated with steroids. The decrease in renal function compared to the group treated in the previously mentioned STOP-IgAN trial was 4 times less than in the TESTING study. Are we doing enough? Obviously, more trials are required with the use of adequate nephroprotection measures. We present 3 patients with a diagnosis of IgA nephropathy who attend the follow-up consultation and voluntarily decide to take part in the review. 展开更多
关键词 immunoglobulin a nephropathy (IgaN) Inhibition of the Renin-angiotensin System (aCEI/aRa II) End-Stage Renal Disease (ESRD)
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Guben Tongluo Formula Protects LPS-induced Damage in Lamina Propria B Lymphocytes Through TLR4/MyD88/NF-κB Pathway 被引量:1
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作者 Qing WU Wei MENG +5 位作者 Jiao-jiao SHEN Jia-yuan BAI Luo-bing WANG Ting-yu LIANG Di HUANG Pei-cheng SHEN 《Current Medical Science》 SCIE CAS 2022年第5期991-999,共9页
Objective The main pathological feature of immunoglobulin A nephropathy(IgAN),an autoimmune kidney disease,is the deposition of IgA immune complexes,accompanied by mesangial cell proliferation and elevated urine prote... Objective The main pathological feature of immunoglobulin A nephropathy(IgAN),an autoimmune kidney disease,is the deposition of IgA immune complexes,accompanied by mesangial cell proliferation and elevated urine protein.The Guben Tongluo formula(GTF)is a traditional Chinese medicine prescription,which has predominant protective effects on IgAN.However,the therapeutic mechanism of the GTF in IgAN remains elusive.The present study aimed to determine the effects of GTF in treating IgAN via regulating the TLR4/MyD88/NF-κB pathway.Methods In the present study,lamina propria B lymphocytes were treated with different concentrations of lipopolysaccharide(LPS)(0,1,5,10 and 20 ng/mL).Flow cytometry was used to define positive CD86+CD19+cells.CCK-8 assay was used to examine cell proliferation.RNAi was used to induce TLR4 silencing.qRT-PCR and Western blotting were used to determine gene expression.Results It was found that the LPS dose-dependently increased the content of IgA and galactose-deficient IgA1(Gd-IgA),the levels of TLR4,Cosmc,MyD88 and phosphorylated(p)-NF-κB,and the ratio of CD86+CD19+and IgA-producing B cells.However,the TLR4 knockdown reversed the role of LPS.This suggests that TLR4 mediates the effects of LPS on lamina propria B lymphocytes.Furthermore,the GTF could dose-dependently counteract the effects of LPS and TLR4 overexpression on lamina propria B lymphocytes through the TLR4/MyD88/NF-κB pathway.Conclusion Collectively,these results demonstrate that the GTF can regulate the TLR4/MyD88/NF-κB pathway to treat IgAN model lamina propria B lymphocytes stimulated by LPS. 展开更多
关键词 Guben Tongluo formula immunoglobulin a nephropathy lamina propria B lymphocytes TLR4/MyD88/NF-κB
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Study on the rules of TCM syndromes and Chinese herbal medicines about IgAN based on data mining
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作者 Hong-Tong Chen Cai-Di Gong +3 位作者 Chong Xiong Jian Zhong Zi-Xia Wang Ping Chen 《Journal of Hainan Medical University》 2021年第12期38-42,共5页
Objective:To analyze the clinical research literatures of TCM syndromes and treatment of Immunoglobulin A Nephropathy(IgAN)on data-mining technology,and explore the rules of TCM syndromes and Chinese medication.Method... Objective:To analyze the clinical research literatures of TCM syndromes and treatment of Immunoglobulin A Nephropathy(IgAN)on data-mining technology,and explore the rules of TCM syndromes and Chinese medication.Methods:By searching the clinical literatures about TCM syndromes and treatment of IgAN had published in China Biomedical Literature Database,CNKI Database,Wanfang Database,and Chongqing Weipu Database from January 2000 to September 2019.Strictly according to the inclusion and exclusion criteria,included documents and established the databases.Applicated of statistical software for frequency analysis of TCM syndromes,Chinese herbal medicines,and analyzed the commonly used Chinese herbal medicines by factor analysis and cluster analysis.Results:292 literatures were finally included,involving 28 syndromes.A total of 479 prescriptions and 254 Chinese herbs were used.The rules of syndromes in IgA nephropathy are as follows:the syndromes are mainly composed of Qi and Yin deficiency syndrome,followed by the Spleen and kidney qi deficiency syndrome,Liver and Kidney Yin Deficiency Syndrome,Spleen and kidney yang deficiency syndrome.The blood-stasis syndrome,damp-heat syndrome and wind-heat disturbance syndrome are accompanied by other syndrome.The characteristics of traditional Chinese medicines for IgA nephropathy is mainly composed of tonic deficiency medicines,supplemented by blood-activating and stasis-eliminating medicines,heat-clearing medicines,inducing diuresis and excreting dampness medicines and astringent medicines to combine with formulas.Conclusion:Through Data-mining method systematically summarized the rules of TCM syndromes and Chinese medication in treating IgAN and provided scientific theoretical guidance for the treatment of IgAN. 展开更多
关键词 immunoglobulin a nephropathy Traditional Chinese Medicine SYNDROMES Rules of medication Data mining
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Renal biopsy reports in nephritic syndrome:Update
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作者 Saeed Taheri 《World Journal of Nephrology》 2022年第2期73-85,共13页
BACKGROUND Nephritic syndrome(NiS)is a major indicator of serious renal diseases necessitating kidney biopsies for histopathological evaluations,but due to the lack of comprehensive reviews in the literature,the curre... BACKGROUND Nephritic syndrome(NiS)is a major indicator of serious renal diseases necessitating kidney biopsies for histopathological evaluations,but due to the lack of comprehensive reviews in the literature,the current understanding of the syndrome and its significance is limited.AIM To collect all the evidence retrievable from the literature on the diagnoses made on the renal biopsies performed for NiS as the indication to the procedure.METHODS A literature search was conducted to find studies reporting final diagnoses on renal biopsies in NiS patients.Data were pooled and analyzed with stratifications on age and regions.Meta-analyzes were performed using Stata v.9.RESULTS Overall,26414 NiS patients from the total number of 96738 kidney biopsy diagnoses reported by 47 studies from 23 countries from all continents(except sub-Saharan Africa)were found and analyzed.NiS was the indication for renal biopsy in 21%of the patient populations across the reviewed studies.Immunoglobulin A(IgA)nephropathy was the single most frequent diagnosis in these patients(approximately 38%)followed by lupus nephritis(approximately 8%)and Henoch Schönlein purpura(approximately 7%).IgA nephropathy was the most frequent diagnosis reported for the NiS patients from the East Asia,comprising half of all the cases,and least prevalent in South Asia.Considering the age subgroups,adult(vs pediatric or elderly)patients were by far the most likely age group to be diagnosed with the IgA nephropathy.A myriad of such regional and age disparities have been found and reported.CONCLUSION As the indication for renal biopsy,NiS represents a very distinctive epidemiology of final renal disease diagnoses compared to the other major syndromes. 展开更多
关键词 Renal biopsy Nephritic syndrome immunoglobulin a nephropathy DIaGNOSIS HISTOPaTHOLOGY EPIDEMIOLOGY
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